ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.2149G>A (p.Ala717Thr)

gnomAD frequency: 0.00001  dbSNP: rs750490778
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658782 SCV000780577 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002536332 SCV003658172 uncertain significance Inborn genetic diseases 2022-12-01 criteria provided, single submitter clinical testing The c.2149G>A (p.A717T) alteration is located in exon 17 (coding exon 16) of the SLC4A1 gene. This alteration results from a G to A substitution at nucleotide position 2149, causing the alanine (A) at amino acid position 717 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV000658782 SCV004012550 uncertain significance not provided 2023-01-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Located in a region that tolerates variation and lacks pathogenic variants; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV000658782 SCV004224370 uncertain significance not provided 2022-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005010643 SCV005640028 uncertain significance BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP--WALDNER TYPE; BLOOD GROUP--FROESE; BLOOD GROUP--WRIGHT ANTIGEN; Southeast Asian ovalocytosis; Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; Cryohydrocytosis; Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal, 4, with hemolytic anemia; Malaria, susceptibility to 2024-04-25 criteria provided, single submitter clinical testing

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